MFSD12 Gene Summary [Human]
Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MFSD12 |
| Official Name | major facilitator superfamily domain containing 12 [Source:HGNC Symbol;Acc:HGNC:28299] |
| Ensembl ID | ENSG00000161091 |
| Bio databases IDs | |
| Aliases | major facilitator superfamily domain containing 12 |
| Synonyms | C19orf28, F630110N24Rik, gr, major facilitator superfamily domain containing 12, PP3501, RGD1307722, SLC59B1, Wdt1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MFSD12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- organic cation transporter
- sugar (Glycoside-Pentoside-Hexuronide) transporter
- sulfur amino acid transporter
- Major Facilitator Superfamily
- protein binding
- transporter
- neutral amino acid transporter
- MFS/sugar transport protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- lysosome
- late endosomes
- melanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFSD12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- melanin biosynthetic process
- negative regulation of melanin biosynthetic process
- regulation of melanin biosynthetic process
- carbohydrate transport
- pigment metabolic process involved in pigmentation
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- melanosome
- late endosome
- plasma membrane
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- symporter activity
- cysteine transmembrane transporter activity
- transporter activity